ArticlePediatric nephrology (Berlin, Germany)2015
Copy-number variation associated with congenital anomalies of the kidney and urinary tract.
Article in Pediatric nephrology (Berlin, Germany), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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40 citing papers in PubMed, 73 citations in OpenAlex.
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- Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology.Pediatric nephrology (Berlin, Germany) · 2025Review
- Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.Orphanet journal of rare diseases · 2025Article
- Ureter development and associated congenital anomalies.Nature reviews. Nephrology · 2025Review
- Vitamin A Deficiency Disturbs Ret Expression and Induces Urinary Tract Developmental Abnormalities in Mice.American journal of nephrology · 2025Article
- The role of genomic disorders in chronic kidney failure of undetermined aetiology ≤50 years.Clinical kidney journal · 2024Article
- A preliminary study of the miRNA restitution effect on CNV-induced miRNA downregulation in CAKUT.BMC genomics · 2024Article
- The genetics and pathogenesis of CAKUT.Nature reviews. Nephrology · 2023Review
- Maternal risk factors for posterior urethral valves.Frontiers in pediatrics · 2023Article
- Hedgehog-GLI mediated control of renal formation and malformation.Frontiers in nephrology · 2023Review
- Identification and functional interpretation of miRNAs affected by rare CNVs in CAKUT.Scientific reports · 2022Article
- The genetic basis of congenital anomalies of the kidney and urinary tract.Pediatric nephrology (Berlin, Germany) · 2022Review
- Article
- Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
- Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.Kidney international · 2022Review
- Genome-wide association study in patients with posterior urethral valves.Frontiers in pediatrics · 2022Article
- A practical approach to the genomics of kidney disorders.Pediatric nephrology (Berlin, Germany) · 2022Review
- A genome-wide scan to locate regions associated with familial vesicoureteral reflux.Experimental and therapeutic medicine · 2022Article
- The Evaluation of Genetic Diagnosis on High-Risk Fetal CAKUT.Frontiers in genetics · 2022Article
- Rare genetic causes of complex kidney and urological diseases.Nature reviews. Nephrology · 2020Review
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe most common cause of end-stage renal disease in children can be attributed to congenital anomalies of the kidney and urinary tract (CAKUT). Despite this high incidence of disease, the genetic mutations responsible for the majority of CAKUT cases remain unknown.
methodsTo identify novel genomic regions associated with CAKUT, we screened 178 children presenting with the entire spectrum of structural anomalies associated with CAKUT for submicroscopic chromosomal imbalances (deletions or duplications) using single-nucleotide polymorphism (SNP) microarrays.
resultsCopy-number variation (CNV) was detected in 10.1 % (18/178) of the patients; in 6.2 % of the total cohort, novel duplications or deletions of unknown significance were identified, and the remaining 3.9 % harboured CNV of known pathogenicity. CNVs were inherited in 90 % (9/10) of the families tested. In this cohort, patients diagnosed with multicystic dysplastic kidney (30 %) and posterior urethral valves (24 %) had a higher incidence of CNV.
conclusionsThe genes contained in the altered genomic regions represent novel candidates for CAKUT. This study has demonstrated that a significant proportion of patients with CAKUT harbour submicroscopic chromosomal imbalances, warranting screening in clinics for CNV.
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